Bert de Vries - Biography#
For more than 25 years the central theme of Bert de Vries' research has been the clinical and molecular study of neurodevelopmental disorders such as intellectual disability (ID) and autism in order to increase insight in the aetiology of these common disorders.
During his PhD project at the Erasmus University Rotterdam, The Netherlands, a large-scale clinical and molecular study for the fragile X syndrome among 3500 individuals with intellectual disability was performed.
He pioneered efficient and affordable methods for large scale detection of submicroscopic genome defects during his clinical fellowship period in 1999-2000 at The Institute of Child Health/Great Ormond Street Children’s Hospital, London and continued this at the Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
Since his start at the Radboud UMC, Nijmegen in 2001, he and his team have had a keen eye to select the right patients to delineate the genetic basis of intellectual disability and autism. One of the excellent text book examples involves the elucidation of Koolen-de Vries syndrome, caused by a 17q21.31 microdeletion, and imminent haploinsufficiency of KANSL1 residing within this genomic locus. Similarly, his clinical expertise in recognizing and selection of key patients has been instrumental in the discovery of the genes underlying Schinzel-Giedion syndrome, Bohring-Opitz syndrome, Cantu syndrome and de novo mutations in various genes underlying intellectual disability and autism. He facilitated the clinical interpretation of novel ID-related genes by using both functional and animal studies (such as for TDP2, DEAF1 and NR2F1), as well as for genes related to autism (ADNP, CHD8, DYRK1A). Moreover, his contribution of identifying novel syndromes is also reflected in the names of some of the novel syndromes he and his team identified: Koolen-de Vries syndrome, Gabriele-de Vries syndrome, Jansen-de Vries syndrome, Vulto-vanSilfhout-de Vries syndrome and the Nabais-Sa-de Vries syndrome.
Importantly, some of the results were achieved by the international ‘Microdeletion/Mutation Network’ under his direct leadership. Additionally, he, as the Editor-in-Chief, has initiated the Human Disease Genes website series (http://humandiseasegenes.nl/), representing an international library of websites for professional information on genes and copy number variants and their clinical consequences.
He has received multiple personal grants from the Netherlands Organisation for Scientific Research and other organisations and took part in various European projects. His work was supported by a prestigious TOP subsidy from NWO. His current SCI H-index is 75 and he (co-)authored over 350 scientific publications, including in top-ranking journals such as Cell, Nature, Nature Genetics, Nature Medicine and the American Journal of Human Genetics.
As head of the scientific committee, he has been involved in the annual organization of the renowned 'International Meeting on Genetics of Neurodevelopmental Disorders' in Troina, Sicily. He is a medical advisor of several international patient foundations e.g Koolen-De Vries foundation and Jansen-De Vries syndrome foundation.
